DISEASES

Disease-gene associations mined from literature

Literature associating PGM3 and hyper IgE recurrent infection syndrome 1

PGM3 [ENSP00000425809]

Phosphoacetylglucosamine mutase; Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O- glycosylation.

Synonyms:  PGM3,  PGM3p,  hPGM3,  A0A087WT27,  A0A494C076 ...

Linkouts:  STRING  Pharos  UniProt  OMIM